ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002344277 SCV002646669 uncertain significance Cardiovascular phenotype 2020-08-04 criteria provided, single submitter clinical testing The p.G1738D variant (also known as c.5213G>A), located in coding exon 42 of the CACNA1C gene, results from a G to A substitution at nucleotide position 5213. The glycine at codon 1738 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003647891 SCV004508199 likely benign Long QT syndrome 2023-01-18 criteria provided, single submitter clinical testing

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